Mutagenetix > Incidental Mutation

Incidental Mutation 'R6182:Erc2'

487056

Institutional Source

Beutler Lab

Gene Symbol

Erc2

Ensembl Gene

ENSMUSG00000040640

Gene Name

ELKS/RAB6-interacting/CAST family member 2

Synonyms

ELKS2alpha, D14Ertd171e

MMRRC Submission

044324-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6182 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27622428-28478537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 28317253 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 951 (D951A)

Ref Sequence

ENSEMBL: ENSMUSP00000147886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090302] [ENSMUST00000210135] [ENSMUST00000210924] [ENSMUST00000211145]

AlphaFold

Q6PH08

Predicted Effect

probably benign
Transcript: ENSMUST00000090302

SMART Domains

Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640

Domain	Start	End	E-Value	Type
low complexity region	14	45	N/A	INTRINSIC
low complexity region	121	133	N/A	INTRINSIC
Pfam:Cast	150	907	N/A	PFAM
low complexity region	916	928	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209800

Predicted Effect

probably benign
Transcript: ENSMUST00000210135
AA Change: D971A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000210924
AA Change: D617A

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211145
AA Change: D951A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the Rab3-interacting molecule (RIM)-binding protein family. Members of this protein family form part of the cytomatrix at the active zone (CAZ) complex and function as regulators of neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for targeted disruptions of this gene are viable and fertile. However, homozygotes for one allele display abnormal CNS synaptic transmission. Homozygotes for a second allele display retinal abnormalities and impaired vision. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	T	C	9: 90,192,436	S884P	probably benign	Het
Akap13	C	A	7: 75,586,280	A201E	probably benign	Het
Ccdc151	A	G	9: 21,990,402	F553S	probably damaging	Het
Ces1f	T	G	8: 93,256,496	E540A	probably benign	Het
Chid1	T	A	7: 141,528,502	M137L	probably benign	Het
Chsy3	A	G	18: 59,179,342	T296A	probably benign	Het
Clec4f	A	G	6: 83,645,302	V519A	probably benign	Het
Clk4	T	A	11: 51,268,182	F41I	possibly damaging	Het
Cntnap5c	A	G	17: 57,876,395	D32G	probably benign	Het
Ctsl	T	C	13: 64,367,972	Y95C	probably damaging	Het
Cyp2c54	T	C	19: 40,047,561	M302V	probably benign	Het
Cyp2c65	C	G	19: 39,061,162	L45V	probably benign	Het
Cyp2j6	G	C	4: 96,536,086	L145V	probably damaging	Het
Daam1	C	T	12: 71,959,887	Q693*	probably null	Het
Dgcr8	A	T	16: 18,280,308	D406E	probably benign	Het
Dock2	G	T	11: 34,229,476	P1760Q	probably damaging	Het
Epb41l2	G	A	10: 25,507,817	R940H	probably damaging	Het
Fbxw7	T	C	3: 84,815,771		probably null	Het
Frem2	T	A	3: 53,647,969	I1716F	probably damaging	Het
Fus	A	G	7: 127,977,293	D295G	probably damaging	Het
Gm5093	A	G	17: 46,439,642	I153T	probably benign	Het
Gnptab	T	C	10: 88,429,480	V318A	possibly damaging	Het
Gpc2	T	C	5: 138,278,414	D150G	probably benign	Het
Gsc2	A	G	16: 17,913,619	*215R	probably null	Het
Hectd3	T	C	4: 117,000,279	S552P	probably damaging	Het
Katnal1	C	A	5: 148,904,597	K152N	possibly damaging	Het
Kcnh1	A	T	1: 192,191,053	T16S	probably damaging	Het
Lrrc71	T	C	3: 87,745,794	D105G	probably benign	Het
Mon2	T	C	10: 123,038,659		probably null	Het
Mpp6	A	G	6: 50,198,226	I506V	probably benign	Het
Mroh9	G	A	1: 163,066,043	Q188*	probably null	Het
Mtmr14	A	G	6: 113,269,508	S81G	possibly damaging	Het
Nrap	T	A	19: 56,361,698	M628L	probably benign	Het
Olfr107	T	A	17: 37,405,992	I148K	possibly damaging	Het
Olfr173	A	G	16: 58,797,292	Y185H	probably damaging	Het
Pate4	A	T	9: 35,608,290	S35T	possibly damaging	Het
Pkd1l1	T	C	11: 8,865,555	E1452G	probably benign	Het
Pld5	T	C	1: 176,044,854	D239G	probably benign	Het
Ppef2	C	T	5: 92,227,066	V728M	probably damaging	Het
Rasip1	TGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGC	7: 45,628,455		probably benign	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Serpina3c	C	A	12: 104,149,431	V285L	probably benign	Het
Serpinb9f	T	C	13: 33,334,422	S302P	probably damaging	Het
Sis	C	T	3: 72,904,293	V1642I	probably benign	Het
Slc12a4	G	A	8: 105,947,899	L601F	probably damaging	Het
Slc39a6	G	T	18: 24,600,956	N225K	probably benign	Het
Snrnp70	G	A	7: 45,377,073	R291*	probably null	Het
Spin1	C	T	13: 51,144,338	T131I	probably benign	Het
St18	T	G	1: 6,844,118		probably null	Het
Stox1	A	G	10: 62,664,942	L613P	probably damaging	Het
Tgm3	T	G	2: 130,025,301	Y155*	probably null	Het
Tmem67	T	C	4: 12,051,402	I809V	probably benign	Het
Tnc	T	A	4: 64,008,796	D831V	probably damaging	Het
Ttll13	A	T	7: 80,260,233	E762D	probably benign	Het
Unc5b	A	T	10: 60,765,236	V937E	probably damaging	Het
Vmn1r34	A	G	6: 66,637,328	I142T	probably damaging	Het
Vmn2r104	A	G	17: 20,030,245	M588T	probably benign	Het
Vmn2r77	T	C	7: 86,811,749	V761A	probably damaging	Het
Wdr48	G	T	9: 119,924,766	G665W	probably damaging	Het
Xpot	T	A	10: 121,606,258	R550S	probably damaging	Het
Ydjc	A	G	16: 17,147,079	T33A	probably benign	Het
Zfc3h1	A	G	10: 115,390,859	T274A	probably benign	Het
Zfp202	G	A	9: 40,207,342	G17E	probably damaging	Het
Zfp788	T	A	7: 41,650,516	C859S	probably damaging	Het
Zscan4c	T	C	7: 11,006,782	M76T	probably benign	Het

Other mutations in Erc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Erc2	APN	14	28040521	missense	probably damaging	0.98
IGL01862:Erc2	APN	14	28271569	splice site	probably benign
IGL01906:Erc2	APN	14	28141306	missense	probably damaging	0.99
IGL02177:Erc2	APN	14	27898623	missense	probably benign	0.00
IGL02481:Erc2	APN	14	27653071	missense	probably damaging	1.00
IGL02483:Erc2	APN	14	27653071	missense	probably damaging	1.00
IGL02623:Erc2	APN	14	27776980	missense	probably damaging	1.00
IGL03252:Erc2	APN	14	28475649	utr 3 prime	probably benign
IGL03378:Erc2	APN	14	28011723	missense	probably damaging	1.00
lobe	UTSW	14	28317251	missense	probably damaging	0.96
R0091:Erc2	UTSW	14	27776824	critical splice acceptor site	probably null
R0309:Erc2	UTSW	14	28141225	missense	probably damaging	0.98
R0357:Erc2	UTSW	14	27777022	missense	probably damaging	0.99
R0378:Erc2	UTSW	14	28011694	missense	probably damaging	1.00
R0550:Erc2	UTSW	14	28271651	missense	possibly damaging	0.74
R0815:Erc2	UTSW	14	28025148	missense	probably benign	0.04
R0863:Erc2	UTSW	14	28025148	missense	probably benign	0.04
R1121:Erc2	UTSW	14	28475655	utr 3 prime	probably benign
R1164:Erc2	UTSW	14	28302972	missense	probably damaging	0.99
R1498:Erc2	UTSW	14	28302898	missense	probably benign	0.27
R1500:Erc2	UTSW	14	28271660	missense	probably damaging	0.98
R1555:Erc2	UTSW	14	28011665	missense	probably damaging	0.99
R1894:Erc2	UTSW	14	28141228	missense	probably damaging	0.99
R1950:Erc2	UTSW	14	27912900	missense	probably damaging	0.99
R1991:Erc2	UTSW	14	28011636	missense	probably benign	0.34
R2698:Erc2	UTSW	14	28271705	missense	probably benign	0.06
R2847:Erc2	UTSW	14	28040488	missense	probably damaging	0.97
R3015:Erc2	UTSW	14	28011775	critical splice donor site	probably null
R3612:Erc2	UTSW	14	27777177	missense	possibly damaging	0.69
R3759:Erc2	UTSW	14	28025163	missense	possibly damaging	0.94
R3857:Erc2	UTSW	14	28475642	utr 3 prime	probably benign
R3858:Erc2	UTSW	14	28475642	utr 3 prime	probably benign
R3859:Erc2	UTSW	14	28475642	utr 3 prime	probably benign
R4556:Erc2	UTSW	14	28302904	missense	probably damaging	1.00
R4739:Erc2	UTSW	14	27776881	missense	probably damaging	1.00
R4898:Erc2	UTSW	14	27653328	missense	probably damaging	1.00
R5068:Erc2	UTSW	14	28302943	missense	possibly damaging	0.63
R5113:Erc2	UTSW	14	27652872	missense	probably benign	0.40
R5418:Erc2	UTSW	14	27966510	missense	probably benign	0.14
R5741:Erc2	UTSW	14	28302869	splice site	probably null
R5819:Erc2	UTSW	14	28141369	missense	probably damaging	0.97
R5930:Erc2	UTSW	14	27776858	missense	probably damaging	0.99
R6073:Erc2	UTSW	14	28011636	missense	probably benign	0.00
R6150:Erc2	UTSW	14	28141291	missense	probably damaging	0.97
R6188:Erc2	UTSW	14	28317251	missense	probably damaging	0.96
R6267:Erc2	UTSW	14	28080155	missense	probably damaging	1.00
R6296:Erc2	UTSW	14	28080155	missense	probably damaging	1.00
R6730:Erc2	UTSW	14	27898567	missense	possibly damaging	0.95
R6969:Erc2	UTSW	14	27898596	missense	probably damaging	1.00
R7095:Erc2	UTSW	14	27898593	missense	probably damaging	0.99
R7221:Erc2	UTSW	14	27653158	missense	probably damaging	0.97
R7365:Erc2	UTSW	14	28040389	missense	probably damaging	1.00
R7454:Erc2	UTSW	14	28302991	missense	possibly damaging	0.92
R7763:Erc2	UTSW	14	27876204	critical splice donor site	probably null
R7784:Erc2	UTSW	14	27898594	missense	probably damaging	0.96
R7890:Erc2	UTSW	14	28040341	critical splice acceptor site	probably null
R7894:Erc2	UTSW	14	27777208	missense	probably damaging	1.00
R8031:Erc2	UTSW	14	28011692	missense	probably damaging	0.99
R8206:Erc2	UTSW	14	28303015	splice site	probably null
R8273:Erc2	UTSW	14	27777139	missense	probably benign	0.41
R8304:Erc2	UTSW	14	27653165	missense	probably damaging	0.99
R8387:Erc2	UTSW	14	27653296	missense	possibly damaging	0.92
R8751:Erc2	UTSW	14	28080188	missense	possibly damaging	0.78
R8851:Erc2	UTSW	14	28317259	missense	probably null	0.99
R9130:Erc2	UTSW	14	28029461	missense	probably benign	0.25
R9292:Erc2	UTSW	14	27776842	missense	probably damaging	1.00
R9441:Erc2	UTSW	14	28080157	missense	possibly damaging	0.58
R9452:Erc2	UTSW	14	28011733	missense	probably damaging	1.00
R9529:Erc2	UTSW	14	28475766	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATTTGACAAGCCAGTGATGTGG -3'
(R):5'- TGGGACACAGTAGCAAGCAC -3'

Sequencing Primer
(F):5'- GCCAGTGATGTGGAACTTAAATTAC -3'
(R):5'- ACATCAGCGAGCACAATTGAG -3'

Posted On

2017-10-10